Percec Ivona, Plenge Robert M, Nadeau Joseph H, Bartolomei Marisa S, Willard Huntington F
Howard Hughes Medical Institute and Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Science. 2002 May 10;296(5570):1136-9. doi: 10.1126/science.1070087.
X chromosome inactivation is the silencing mechanism eutherian mammals use to equalize the expression of X-linked genes between males and females early in embryonic development. In the mouse, genetic control of inactivation requires elements within the X inactivation center (Xic) on the X chromosome that influence the choice of which X chromosome is to be inactivated in individual cells. It has long been posited that unidentified autosomal factors are essential to the process. We have used chemical mutagenesis in the mouse to identify specific factors involved in X inactivation and report two genetically distinct autosomal mutations with dominant effects on X chromosome choice early in embryogenesis.
X染色体失活是真兽亚纲哺乳动物在胚胎发育早期用于使雄性和雌性之间X连锁基因表达均等化的沉默机制。在小鼠中，失活的遗传控制需要X染色体上X失活中心（Xic）内的元件，这些元件影响单个细胞中哪条X染色体将被失活的选择。长期以来人们一直认为，未知的常染色体因子对这一过程至关重要。我们利用小鼠的化学诱变来鉴定参与X染色体失活的特定因子，并报告了两个在胚胎发生早期对X染色体选择具有显性作用的遗传上不同的常染色体突变。
